NICE recommends genetic test to prevent newborn babies going deaf

An independent National Institute for Health and Care Excellence (NICE) committee has conditionally recommended the use of a diagnostic test for detecting the m.1555A>G variant in newborn babies being cared for in hospital.

Around 1,249 babies are born in England and Wales with the m.1555A>G variant each year. If babies develop a neonatal bacterial infection, the antibiotic gentamicin would usually be given. However the use of gentamicin carries a risk of hearing loss if the baby has the m.1555A>G genetic variant. Other alternative antibiotics are available but cannot be more widely used because they are associated with an increased risk of antimicrobial resistance. At present laboratory testing would not produce results quickly enough to give treatment within an hour – in line with guideline recommendations.

The test uses a swab of DNA from inside the newborn’s cheek, which is run through a device called Genedrive to discover if the baby has the genetic variant. The results are displayed on screen in under an hour. If the m.1555A>G variant is found, the baby can be treated with alternative, equally effective, antibiotics.

The assessment of the Genedrive kit has been carried out through NICE’s Early Value Assessment pilot project, which has been created to enable earlier access to digital products, medical devices and diagnostics that address national unmet needs in health and social care. It means clinicians and patients can benefit from medical technologies while further data is collected to inform a full NICE assessment of the device’s cost and clinical effectiveness.